Biomedical subjects
Publications and source records attributed to N Don.
A case of sialuria is described in a girl who presented in the neonatal period with hepatosplenomegaly, and who has moderate developmental delay at the age of 2 years. There was massive urinary excretion of free sialic acid (N-acetylneuraminic acid). The clinical, biochemical and ultramicroscopical features were distinct from those described in Salla disease and in infantile sialic acid storage disorder.
A 15 month old boy with an interstitial deletion 15q derived from a paternal insertion (5;15)(q31.3;q21.1q22.1) is described and compared with one other reported case. A beak like nose with hypoplastic nasal alae, a thin upper lip, failure to thrive in infancy with later onset of obesity, and severe mental retardation are features common to both.
A small epidemic of viral infection occurred in a neonatal unit. It involved 11 infants, all of whom recovered. Echovirus 11 was the cause of illness in six infants, coxsackie B3 in four, and one infant had a biphasic illness, due first to echo 11, then to coxsackie B3. The epidemic coincided with a major outbreak of echovirus 11 and a smaller outbreak of coxsackie B3 in the community. Several staff became ill. Five infants were considered to have been infected by perinatal materno-infant spread, others by cross-infection. The epidemic ended when the nursery was closed.
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A new syndrome of neonatal convulsions is described. Ninety cases were documented from one maternity hospital between 1973 and 1977. The appearance of this syndrome increased the annual incidence of neonatal convulsions from fewer than 3 to more than 16 per 1000 live births. Fits began on about the fifth day in apparently healthy babies. Investigations and therapeutic trials have not shown the cause. There were no deaths and all babies were discharged from hospital apparently well. The term fifth day fits is suggested with criteria for this diagnosis.
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